title: A new familial syndrome with dystonia and lower limb action myoclonus.
abstract: BACKGROUND
  Myoclonus-dystonia (M-D) is genetic and clinically heterogeneous. Identification and description of rare M-D syndromes may contribute to gene identification.
  
  
  RESULTS
  Here, we describe a new, autosomal dominant M-D syndrome in a 3-generation pedigree showing anticipation. Patients have progressive action-induced multifocal dystonia and generalized myoclonus. A remarkable feature of the syndrome is action myoclonus in the lower extremities triggered by upright posture, causing instability. Electrophysiological characterization shows a 12-Hz peak in the EMG autospectrum and corticomuscular and intermuscular coherences.
  
  
  CONCLUSIONS
  A new familial M-D syndrome with progressive action myoclonus and dystonia is described.
authors.affiliation: Department of Neurology and Clinical Neurophysiology, Academic Medical Center, Amsterdam, The Netherlands.
authors.forename: Justus
authors.initials: J
authors.lastname: Groen
authors.forename: Anne-Fleur
authors.initials: AF
authors.lastname: van Rootselaar
authors.forename: Sandra M A
authors.initials: SM
authors.lastname: van der Salm
authors.forename: Bastiaan R
authors.initials: BR
authors.lastname: Bloem
authors.forename: Marina
authors.initials: M
authors.lastname: Tijssen
mesh_terms: D000328:Adult; D000369:Aged, 80 and over; D002648:Child; D004421:Dystonia / Q000150:complications* / Q000235:genetics*; D004569:Electroencephalography / Q000379:methods; D004576:Electromyography; D005192:Family Health; D005260:Female; D006801:Humans; D035002:Lower Extremity / Q000503:physiopathology*; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D008875:Middle Aged; D009207:Myoclonus / Q000150:complications* / Q000235:genetics*; D049031:Sarcoglycans / Q000235:genetics
chemical_list: D049031:Sarcoglycans